Definition

The HAX1 gene encodes the mitochondrial HAX1 protein, which is responsible for maintaining inner mitochondrial membrane potential and protecting myeloid cells against apoptosis (classic Kostmann syndrome). This autosomal recessive disorder is characterized by low neutrophil counts, recurrent infections, and a risk of progression to MDS/AML; some mutations may also be accompanied by neurological abnormalities.

Gene/region examined

HAX1 - Exon 1, HAX1 - Exon 2, HAX1 - Exon 3, HAX1 - Exon 4, HAX1 - Exon 5, HAX1 - Exon 6, HAX1 - Exon 7

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Hereditary, autosomal recessive.

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

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Carrier (Heterozygous / Homozygous)

Why it matters: In autosomal recessive inheritance, when each parent is a carrier (while both appear healthy), the chance of their child being born with the disease is 25% in each

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VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

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How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

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Types of Genetic Tests

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

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